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Mental retardation is characterized by lower intelligence compared to the average intelligence of persons the same age. These patients have low adaptive capacity acquired by society. The genetic factors of causing MR include monogenic disease, chromosome structural aberration, and chromosome number aberration and so on. We explored the cause of a Chinese family suffering from mental retardation.We...
Fabry disease (FD) was an X-linked lysosomal storage disorder resulting from a deficiency in glycosphingolipid catabolism caused by mutations in the α-galactosidase A gene GLA. Variant FD patients did not present with classical symptoms during childhood and were undiagnosed or misdiagnosed with other kidney diseases, such as chronic glomerulonephritis (CGN). In this study, we utilized exome sequencing...
Glucose is a substrate for fatty acid synthesis, and induces lipogenesis and expressions of lipogenic genes. It was proposed that transcriptional factor ChREBP, LXRα and SREBP-1c are key mediators in lipogenesis induced by glucose, however the underlying mechanism remains unclear in porcine adipocytes. In this study, glucose stimulated lipogenesis and expressions of ChREBP, LXRα, SREBP-1c and lipogenic...
Aniridia is a rare, congenital ocular disorder with the characteristics of incomplete formation of the iris caused by the mutations of the paired box gene-6 (PAX6). To investigate the clinical characterization and the underlying genetic defect in a Chinese family with autosomal dominant aniridia, we recruited the family members who underwent comprehensive ophthalmic examination. A novel heterozygous...
High-molecular-weight glutenin subunits (HMW-GSs) are of considerable interest, because they play a crucial role in determining dough viscoelastic properties and end-use quality of wheat flour. In this paper, ChAy/Bx, a novel chimeric HMW-GS gene from Triticum turgidum ssp. dicoccoides (AABB, 2n=4x=28) accession D129, was isolated and characterized. Sodium dodecyl sulfate polyacrylamide gel electrophoresis...
Two y-type high molecular weight glutenin subunits (HMW-GSs) 1Ay12 ⁎ and 1Ay8 ⁎ from the two accessions PI560720 and PI345186 of cultivated einkorn wheat (Triticum monococcum ssp. monococcum, AA, 2n=2x=14), were identified by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE). The mobility of 1Ay12 ⁎ and 1Ay8 ⁎ was similar to that of 1Dy12 and 1By8...
Autism is a heterogeneous childhood neurodevelopmental disorder that is characterised by deficits in verbal communication, impaired social interactions, restricted interests and repetitive behaviours. Using an Illumina HumanCNV370-Quad BeadChip, we identified two Han Chinese individuals with autism and large duplications (~1.6Mb and ~2.4Mb) disrupting the same CNTN4 gene. CNTN4 encodes a protein that...
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